Disease #04591 (MRT46 (mental retardation, autosomal recessive, type 46 (MRT-45)), OMIM:616116)

Official abbreviation MRT46
Name mental retardation, autosomal recessive, type 46 (MRT-45)
OMIM ID 616116
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene NDST1
Associated tissues -
Disease features -
Remarks -
Date created 2015-09-23 10:25:23 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00092267 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - - United States - - - - - MRT46 moderate IDD, seizures, cranial nerve dysfunction, respiratory problems during infancy, facial dysmorphisms, hypotonia; mitochondrial disease NDST1 - - 1 Johan den Dunnen
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